Psychosis in a 47,XXX Adolescent: Clinical Management and Multidisciplinary Follow-up

Triple X (47,XXX) syndrome is a sex chromosome aneuploidy associated with learning disabilities, attentional deficits, and social impairments. Its psychiatric manifestations, particularly psychosis, remain underrecognized. This case report describes a 13-year-old girl with 47,XXX syndrome who developed two recurrent psychotic episodes during adolescence and ultimately achieved sustained remission under clozapine, illustrating the need for individualized, genetically informed care. The patient initially presented with persecutory delusions, auditory hallucinations, behavioral changes, and functional decline. Comprehensive neurological, neuropsychological, and audiological assessments showed average overall cognitive functioning and no syndrome-specific sensory abnormalities. Psychotic symptoms emerged years after methylphenidate initiation and persisted during medication-free periods, arguing against stimulant-induced psychosis. Following partial response and poor tolerability to risperidone and aripiprazole, clozapine was introduced using a "start low, go slow" strategy. Low-dose clozapine (150 mg/day) produced complete remission within two months without hematological or cardiovascular adverse effects. Preventive metformin successfully mitigated antipsychotic-associated weight gain. A coordinated multidisciplinary follow-up integrating psychiatry, general medicine, neuropsychology, genetics, and school-based interventions proved essential to maintaining stability, supporting adherence, and promoting academic and social functioning. At one-year follow-up, the patient remained asymptomatic with improved daily functioning. This case reinforces emerging evidence that women with 47,XXX syndrome have an elevated lifetime risk of psychosis and may require tailored antipsychotic strategies due to syndrome-associated comorbidities. It highlights clozapine's potential effectiveness at low doses in genetically vulnerable adolescents, the value of preventive metabolic management, and the importance of integrating psychoeducational and environmental supports. More systematic data are needed to guide evidence-based management of psychosis in sex chromosome aneuploidies.

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Journal
Clinical Psychopharmacology and Neuroscience
Published
2026-04-27
DOI
https://doi.org/10.9758/cpn.25.1375
Primary Topic
Attention Deficit Hyperactivity Disorder
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article
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article

Psychosis in a 47,XXX Adolescent: Clinical Management and Multidisciplinary Follow-up

Stéphanie Bioulac, Florence Amblard, Clément Dondé, Isabelle Marey et al.
Clinical Psychopharmacology and Neuroscience
Attention Deficit Hyperactivity Disorder
article

Psychosis in a 47,XXX Adolescent: Clinical Management and Multidisciplinary Follow-up

Stéphanie Bioulac, Florence Amblard, Clément Dondé, Isabelle Marey, Anaëlle Bain
article en

Abstract

Triple X (47,XXX) syndrome is a sex chromosome aneuploidy associated with learning disabilities, attentional deficits, and social impairments. Its psychiatric manifestations, particularly psychosis, remain underrecognized. This case report describes a 13-year-old girl with 47,XXX syndrome who developed two recurrent psychotic episodes during adolescence and ultimately achieved sustained remission under clozapine, illustrating the need for individualized, genetically informed care. The patient initially presented with persecutory delusions, auditory hallucinations, behavioral changes, and functional decline. Comprehensive neurological, neuropsychological, and audiological assessments showed average overall cognitive functioning and no syndrome-specific sensory abnormalities. Psychotic symptoms emerged years after methylphenidate initiation and persisted during medication-free periods, arguing against stimulant-induced psychosis. Following partial response and poor tolerability to risperidone and aripiprazole, clozapine was introduced using a "start low, go slow" strategy. Low-dose clozapine (150 mg/day) produced complete remission within two months without hematological or cardiovascular adverse effects. Preventive metformin successfully mitigated antipsychotic-associated weight gain. A coordinated multidisciplinary follow-up integrating psychiatry, general medicine, neuropsychology, genetics, and school-based interventions proved essential to maintaining stability, supporting adherence, and promoting academic and social functioning. At one-year follow-up, the patient remained asymptomatic with improved daily functioning. This case reinforces emerging evidence that women with 47,XXX syndrome have an elevated lifetime risk of psychosis and may require tailored antipsychotic strategies due to syndrome-associated comorbidities. It highlights clozapine's potential effectiveness at low doses in genetically vulnerable adolescents, the value of preventive metabolic management, and the importance of integrating psychoeducational and environmental supports. More systematic data are needed to guide evidence-based management of psychosis in sex chromosome aneuploidies.

Clinical Psychopharmacology and NeuroscienceVol. 24(2)
Centre National de la Recherche Scientifique (FR), Inserm (FR), Centre Hospitalier Universitaire de Grenoble (FR), Hôpital Couple Enfant (FR), Laboratoire de Psychologie et NeuroCognition (FR), Young Adult Institute (US), Grenoble Institute of Neurosciences (FR), Université Grenoble Alpes (FR)
Openalex Percentile: Top 7%
Attention Deficit Hyperactivity Disorder
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